Organ-specific prioritization and annotation of non-coding regulatory variants in the human genome

TLand_scores.zip: Scores for 2 million trait-associated variants from the GWAS catalog TLand.zip: Data to reproduce model evaluations and GWAS catalog analyses ukbb_data.zip: Data to reproduce UK BioBank analyses caqtl_data.zip: Data to reproduce Wenz et al. 2025 caQTL analyses models.zip: Final TLand, TLand light, and TLand lightest model objects saved as pickle files Please see Fig1a to determine which model to use: We defined organs with >=100 available ChIP-seq assays as “high data availability” and those with <100 assays as “low data availability”. We observed that the TLand (full) model consistently outperformed the TLand light model in organs with high data availability (Fig 1a and c; Supplementary Fig 5), while the light model surpassed the full model in organs with low data availability. For example, the organ-specific TLand light model was the best model when holding out the embryo organ (AUPR 0.639, AUROC 0.774). Those findings indicate that TLand light models are suitable for predicting regulatory variants for organs with low data availability while TLand (full) models are more suitable for organs with high data availability.

Institutions

Publication Details

Journal
Zenodo (CERN European Organization for Nuclear Research)
Published
2026-01-22
DOI
https://doi.org/10.5281/zenodo.7818539
Primary Topic
Genomics and Rare Diseases
Type
article
Field-Weighted Citation Impact
0.00
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

Organ-specific prioritization and annotation of non-coding regulatory variants in the human genome

Zenodo (CERN European Organization for Nuclear Research)
Genomics and Rare Diseases
article

Organ-specific prioritization and annotation of non-coding regulatory variants in the human genome

article en

Abstract

TLand_scores.zip: Scores for 2 million trait-associated variants from the GWAS catalog TLand.zip: Data to reproduce model evaluations and GWAS catalog analyses ukbb_data.zip: Data to reproduce UK BioBank analyses caqtl_data.zip: Data to reproduce Wenz et al. 2025 caQTL analyses models.zip: Final TLand, TLand light, and TLand lightest model objects saved as pickle files Please see Fig1a to determine which model to use: We defined organs with >=100 available ChIP-seq assays as “high data availability” and those with <100 assays as “low data availability”. We observed that the TLand (full) model consistently outperformed the TLand light model in organs with high data availability (Fig 1a and c; Supplementary Fig 5), while the light model surpassed the full model in organs with low data availability. For example, the organ-specific TLand light model was the best model when holding out the embryo organ (AUPR 0.639, AUROC 0.774). Those findings indicate that TLand light models are suitable for predicting regulatory variants for organs with low data availability while TLand (full) models are more suitable for organs with high data availability.

Zenodo (CERN European Organization for Nuclear Research)
University of Michigan (US), Stanford University (US)
Openalex Percentile: Top 98%
Genomics and Rare Diseases
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.